Incidental Mutation 'R9513:Tjap1'
ID 718336
Institutional Source Beutler Lab
Gene Symbol Tjap1
Ensembl Gene ENSMUSG00000012296
Gene Name tight junction associated protein 1
Synonyms Tjp4, 0610041D19Rik, Pilt
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.220) question?
Stock # R9513 (G1)
Quality Score 225.009
Status Not validated
Chromosome 17
Chromosomal Location 46568777-46593952 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 46569733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Histidine at position 409 (P409H)
Ref Sequence ENSEMBL: ENSMUSP00000012440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000012440] [ENSMUST00000095262] [ENSMUST00000164342] [ENSMUST00000180283] [ENSMUST00000224055] [ENSMUST00000224230] [ENSMUST00000224901] [ENSMUST00000225080] [ENSMUST00000225288] [ENSMUST00000225359] [ENSMUST00000225413] [ENSMUST00000225943]
AlphaFold Q9DCD5
Predicted Effect probably damaging
Transcript: ENSMUST00000012440
AA Change: P409H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000012440
Gene: ENSMUSG00000012296
AA Change: P409H

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 256 450 3.7e-83 PFAM
Pfam:Pilt 441 538 5.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000095262
SMART Domains Protein: ENSMUSP00000092896
Gene: ENSMUSG00000071073

DomainStartEndE-ValueType
LRR 27 54 2.42e1 SMART
LRR 84 111 3.47e1 SMART
LRR 112 139 1.84e0 SMART
LRR 143 171 1.66e2 SMART
LRR 172 199 5.41e0 SMART
LRR 200 227 3.54e0 SMART
LRR 229 256 5.48e1 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000164342
AA Change: P409H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130710
Gene: ENSMUSG00000012296
AA Change: P409H

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 262 447 1.5e-59 PFAM
Pfam:Pilt 442 538 1.1e-22 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180283
AA Change: P409H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000137220
Gene: ENSMUSG00000012296
AA Change: P409H

DomainStartEndE-ValueType
low complexity region 4 16 N/A INTRINSIC
SCOP:d1fxkc_ 28 158 6e-3 SMART
low complexity region 204 215 N/A INTRINSIC
Pfam:Pilt 256 450 3.7e-83 PFAM
Pfam:Pilt 441 538 5.4e-31 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000224055
Predicted Effect probably benign
Transcript: ENSMUST00000224230
Predicted Effect probably benign
Transcript: ENSMUST00000224901
Predicted Effect probably damaging
Transcript: ENSMUST00000225080
AA Change: P409H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225288
Predicted Effect probably benign
Transcript: ENSMUST00000225359
Predicted Effect probably damaging
Transcript: ENSMUST00000225413
AA Change: P419H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000225943
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a tight junction-associated protein. Incorporation of the encoded protein into tight junctions occurs at a late stage of formation of the junctions. The encoded protein localizes to the Golgi and may function in vesicle trafficking. Alternatively spliced transcript variants have been described. A related pseudogene exists on the X chromosome. [provided by RefSeq, Mar 2009]
Allele List at MGI
Other mutations in this stock
Total: 85 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2200002D01Rik CCTTCTCCTTCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC CCTTCTCCTTCTTCTCCTTCTTCTCCATCTTCTCCTTCTTC 7: 28,947,048 (GRCm39) probably benign Het
Accsl T C 2: 93,699,498 (GRCm39) probably benign Het
Adgrv1 T A 13: 81,530,472 (GRCm39) K5867N possibly damaging Het
Adh1 T A 3: 137,988,571 (GRCm39) Y181* probably null Het
Agbl2 T C 2: 90,631,458 (GRCm39) V272A possibly damaging Het
Akap13 T C 7: 75,354,275 (GRCm39) Y80H probably benign Het
Amotl1 A T 9: 14,526,063 (GRCm39) S6T probably benign Het
Bicd1 T A 6: 149,414,391 (GRCm39) V368E probably damaging Het
Brinp2 G A 1: 158,074,273 (GRCm39) T616I probably damaging Het
C1rl T A 6: 124,485,802 (GRCm39) V391E probably damaging Het
Cacna1e T A 1: 154,318,033 (GRCm39) I1450F probably damaging Het
Camk2a A G 18: 61,088,607 (GRCm39) probably null Het
Ccdc125 A G 13: 100,826,875 (GRCm39) E244G probably benign Het
Cdh23 C T 10: 60,166,995 (GRCm39) A1884T probably damaging Het
Clcn1 T C 6: 42,282,462 (GRCm39) I510T probably damaging Het
Copb1 A T 7: 113,831,432 (GRCm39) V572D probably benign Het
Ctf1 AGCAAC A 7: 127,316,180 (GRCm39) probably null Het
Dnhd1 T A 7: 105,354,179 (GRCm39) L3053Q probably damaging Het
Ephb4 T A 5: 137,361,564 (GRCm39) H531Q possibly damaging Het
Fgl2 T A 5: 21,580,790 (GRCm39) C377* probably null Het
Frmd4a T C 2: 4,608,711 (GRCm39) F860L probably damaging Het
Gbp9 T C 5: 105,229,091 (GRCm39) N519D probably benign Het
Gm1110 A G 9: 26,795,083 (GRCm39) S468P possibly damaging Het
Gm4847 A T 1: 166,462,541 (GRCm39) D316E probably damaging Het
Gnas T C 2: 174,185,089 (GRCm39) Y916H probably damaging Het
Hectd1 T C 12: 51,816,079 (GRCm39) D1336G possibly damaging Het
Herc2 G T 7: 55,762,848 (GRCm39) G859V probably damaging Het
Hydin G A 8: 111,322,114 (GRCm39) D4589N probably damaging Het
Itfg1 A T 8: 86,490,875 (GRCm39) N351K possibly damaging Het
Kcnd3 G A 3: 105,572,863 (GRCm39) probably null Het
Krt77 A T 15: 101,769,779 (GRCm39) Y364N probably damaging Het
Lcn4 C T 2: 26,560,613 (GRCm39) probably null Het
Lrrn1 T A 6: 107,545,505 (GRCm39) H434Q probably benign Het
Lrrtm2 A G 18: 35,346,687 (GRCm39) I205T probably damaging Het
Mepce G C 5: 137,783,759 (GRCm39) P189R probably damaging Het
Mfap1a T C 2: 121,330,084 (GRCm39) K221E probably benign Het
Myo7a A G 7: 97,746,818 (GRCm39) probably null Het
Ncbp3 T C 11: 72,938,727 (GRCm39) M1T probably null Het
Nck1 A T 9: 100,379,369 (GRCm39) M294K probably benign Het
Nr2f2 A T 7: 70,010,056 (GRCm39) W8R probably damaging Het
Or12e10 T A 2: 87,640,187 (GRCm39) S8T possibly damaging Het
Or1e20-ps1 T A 11: 73,324,818 (GRCm39) Q78L unknown Het
Or4c12b A T 2: 89,647,553 (GRCm39) R288S probably damaging Het
Or6ae1 T A 7: 139,742,822 (GRCm39) I14F possibly damaging Het
Or7e169 A G 9: 19,757,816 (GRCm39) L33P possibly damaging Het
Or8g18 T C 9: 39,149,625 (GRCm39) T32A probably benign Het
Or8j3c A T 2: 86,253,707 (GRCm39) F104L probably damaging Het
Pcdha1 A G 18: 37,065,286 (GRCm39) K650R probably benign Het
Pgm1 T A 4: 99,841,242 (GRCm39) I532N probably damaging Het
Pik3c2a T A 7: 115,939,321 (GRCm39) K1672N probably benign Het
Pou3f1 G A 4: 124,552,835 (GRCm39) G446S probably benign Het
Ppm1j T C 3: 104,693,134 (GRCm39) I497T probably damaging Het
Pprc1 C T 19: 46,056,500 (GRCm39) Q1202* probably null Het
Pramel30 T A 4: 144,059,678 (GRCm39) I463N possibly damaging Het
Prdm15 T C 16: 97,607,704 (GRCm39) N713S probably damaging Het
Ptprb A G 10: 116,138,142 (GRCm39) T62A probably benign Het
Rabl2 T A 15: 89,474,631 (GRCm39) probably null Het
Ranbp3l A T 15: 9,037,176 (GRCm39) R149* probably null Het
Resf1 T A 6: 149,229,793 (GRCm39) Y946* probably null Het
Rfx4 T A 10: 84,674,050 (GRCm39) M1K probably null Het
Ripk4 G T 16: 97,547,098 (GRCm39) S388* probably null Het
Rnft1 T G 11: 86,377,065 (GRCm39) I43R possibly damaging Het
Setbp1 A T 18: 78,899,781 (GRCm39) F1295L probably damaging Het
Sez6 A G 11: 77,865,409 (GRCm39) D682G probably damaging Het
Slc1a1 T C 19: 28,812,734 (GRCm39) probably null Het
Slc7a5 G T 8: 122,613,616 (GRCm39) T312K probably benign Het
Slco4c1 A T 1: 96,799,643 (GRCm39) N64K probably benign Het
Spata13 C T 14: 60,929,849 (GRCm39) T469I probably benign Het
Stxbp5 T A 10: 9,687,754 (GRCm39) N440I probably benign Het
Tas2r114 T A 6: 131,666,746 (GRCm39) Q94L probably benign Het
Tasor T A 14: 27,186,271 (GRCm39) C823* probably null Het
Tfr2 A G 5: 137,575,769 (GRCm39) D295G possibly damaging Het
Thap7 A G 16: 17,348,152 (GRCm39) Y60H probably damaging Het
Tmtc4 G A 14: 123,209,204 (GRCm39) A147V probably benign Het
Tpp2 T A 1: 44,017,648 (GRCm39) S751T probably benign Het
Tpra1 T C 6: 88,887,221 (GRCm39) V193A probably benign Het
Trafd1 T C 5: 121,516,837 (GRCm39) N122S possibly damaging Het
Vmn1r151 T A 7: 22,199,096 (GRCm39) D3V probably benign Het
Wdr20rt A G 12: 65,272,825 (GRCm39) Y96C probably damaging Het
Zfp507 A G 7: 35,475,573 (GRCm39) V880A probably benign Het
Zfp598 A G 17: 24,896,568 (GRCm39) D215G probably damaging Het
Zfp7 T C 15: 76,775,484 (GRCm39) S509P probably damaging Het
Zfp738 A T 13: 67,817,635 (GRCm39) C785* probably null Het
Zfp985 C T 4: 147,667,999 (GRCm39) T289I probably damaging Het
Zkscan6 T A 11: 65,712,795 (GRCm39) Y243N probably damaging Het
Other mutations in Tjap1
AlleleSourceChrCoordTypePredicted EffectPPH Score
I0000:Tjap1 UTSW 17 46,569,955 (GRCm39) missense probably damaging 1.00
PIT4519001:Tjap1 UTSW 17 46,572,432 (GRCm39) missense probably benign 0.09
R0087:Tjap1 UTSW 17 46,574,652 (GRCm39) missense probably damaging 1.00
R0930:Tjap1 UTSW 17 46,569,455 (GRCm39) missense possibly damaging 0.94
R1513:Tjap1 UTSW 17 46,572,368 (GRCm39) missense probably benign 0.01
R1885:Tjap1 UTSW 17 46,573,347 (GRCm39) missense probably damaging 1.00
R2518:Tjap1 UTSW 17 46,571,021 (GRCm39) missense probably damaging 1.00
R4523:Tjap1 UTSW 17 46,569,718 (GRCm39) missense probably benign
R4552:Tjap1 UTSW 17 46,570,953 (GRCm39) splice site probably null
R5452:Tjap1 UTSW 17 46,571,101 (GRCm39) missense probably damaging 0.99
R5590:Tjap1 UTSW 17 46,569,797 (GRCm39) missense probably damaging 1.00
R6600:Tjap1 UTSW 17 46,570,924 (GRCm39) missense probably damaging 1.00
R7015:Tjap1 UTSW 17 46,574,700 (GRCm39) missense possibly damaging 0.87
R7790:Tjap1 UTSW 17 46,569,616 (GRCm39) missense probably benign 0.00
R8353:Tjap1 UTSW 17 46,593,530 (GRCm39) intron probably benign
R9661:Tjap1 UTSW 17 46,571,092 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- AGGCAGGTTCAGCATTTCCTC -3'
(R):5'- AACTGTACCTATGCCACCCG -3'

Sequencing Primer
(F):5'- AGGTTCAGCATTTCCTCTTCCTCG -3'
(R):5'- CATCTCCTTGAGCCTGGTGGAG -3'
Posted On 2022-07-18